ea0095p149 | Pituitary and Growth 2 | BSPED2023
Palau Helena
, Kurup Uttara
, Ishida Miho
, Maharaj Avinaash V
, Davies Justin H.
, Storr Helen L.
Background: A diagnosis SilverRussell Syndrome (SRS) is important for early institution of appropriate management, access to therapy and reduces the burden of diagnostic uncertainty. SRS is molecularly heterogeneous and 11p15 LOM/upd(7)mat account for ~60% cases. Monogenic causes include variants in HMGA2, CDKN1C, IGF-2, PLAG1 and contribute to 5% cases. Clinical SRS diagnosis requires the fulfilment of ≥4/6 NetchineHarbison Clinical Scoring ...